Transcript #00002644

Transcript name sodium channel, voltage-gated, type IX, alpha subunit
Gene name SCN9A (sodium voltage-gated channel alpha subunit 9)
Chromosome 2
Transcript - NCBI ID NM_002977.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002968.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

123 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.76C>T r.(?) p.(Arg26Cys)
./. - c.174G>A r.(=) p.(=)
./. - c.259-79G>A r.(=) p.(=)
./. - c.377+93G>T r.(=) p.(=)
./. - c.377+94A>G r.(=) p.(=)
./. - c.378-139T>G r.(=) p.(=)
./. - c.378-90T>A r.(=) p.(=)
./. - c.444A>G r.(=) p.(=)
./. - c.467+104A>G r.(=) p.(=)
./. - c.468-38T>C r.(=) p.(=)
./. - c.468-20C>T r.(=) p.(=)
./. - c.554G>A r.(?) p.(Arg185His)
./. - c.596+25C>T r.(=) p.(=)
./. - c.596+183A>G r.(=) p.(=)
./. - c.601T>G r.(?) p.(Leu201Val)
./. - c.688+9T>C r.(=) p.(=)
./. - c.688+13T>C r.(=) p.(=)
./. - c.902-145G>A r.(=) p.(=)
./. - c.902-118T>C r.(=) p.(=)
./. - c.902-55A>G r.(=) p.(=)
./. - c.965+13T>G r.(=) p.(=)
./. - c.965+53A>T r.(=) p.(=)
./. - c.965+136C>T r.(=) p.(=)
./. - c.966-91G>A r.(=) p.(=)
./. - c.966-13T>C r.(=) p.(=)
./. - c.1107+24T>C r.(=) p.(=)
./. - c.1107+41A>G r.(=) p.(=)
./. - c.1107+48C>T r.(=) p.(=)
./. - c.1119T>C r.(=) p.(=)
./. - c.1155G>T r.(=) p.(=)
./. - c.1266A>G r.(=) p.(=)
./. - c.1287T>A r.(=) p.(=)
./. - c.1315-77G>A r.(=) p.(=)
./. - c.1315-67T>C r.(=) p.(=)
./. - c.1326G>A r.(=) p.(=)
./. - c.1469G>A r.(?) p.(Ser490Asn)
./. - c.1552G>T r.(?) p.(Val518Phe)
./. - c.1602+60T>C r.(=) p.(=)
./. - c.1603-55T>C r.(=) p.(=)
./. - c.1603-45T>C r.(=) p.(=)
./. - c.1818T>G r.(?) p.(Ser606Arg)
./. - c.1822T>C r.(?) p.(Ser608Pro)
./. - c.1828C>A r.(?) p.(Pro610Thr)
./. - c.1941+41C>T r.(=) p.(=)
./. - c.1941+42G>A r.(=) p.(=)
./. - c.1941+63G>A r.(=) p.(=)
./. - c.1942-72_1942-71insA r.(=) p.(=)
./. - c.1942-3_1942-2insT r.spl? p.?
./. - c.1964A>G r.(?) p.(Lys655Arg)
./. - c.2072-165T>A r.(=) p.(=)
./. - c.2072-156A>G r.(=) p.(=)
./. - c.2072-138A>T r.(=) p.(=)
./. - c.2072-70C>T r.(=) p.(=)
./. - c.2072-15G>A r.(=) p.(=)
./. - c.2072-14C>T r.(=) p.(=)
./. - c.2157G>C r.(?) p.(Trp719Cys)
./. - c.2215A>G r.(?) p.(Ile739Val)
./. - c.2484+72A>G r.(=) p.(=)
./. - c.2484+124A>G r.(=) p.(=)
./. - c.2485-89T>C r.(=) p.(=)
./. - c.2485-80C>A r.(=) p.(=)
./. - c.2794A>C r.(?) p.(Met932Leu)
./. - c.2841+10_2841+11insTT r.(=) p.(=)
./. - c.2841+11_2841+13del r.(=) p.(=)
./. - c.2842-112T>A r.(=) p.(=)
./. - c.2842-81G>A r.(=) p.(=)
./. - c.2891A>G r.(?) p.(Asn964Ser)
./. - c.2897C>G r.(?) p.(Thr966Arg)
./. - c.2931C>T r.(=) p.(=)
./. - c.2971G>T r.(?) p.(Val991Leu)
./. - c.3162C>T r.(=) p.(=)
./. - c.3302G>T r.(?) p.(Ser1101Ile)
./. - c.3316G>T r.(?) p.(Val1106Leu)
./. - c.3329G>A r.(?) p.(Arg1110Gln)
./. - c.3370C>T r.(?) p.(Pro1124Ser)
./. - c.3440-51A>T r.(=) p.(=)
./. - c.3448T>C r.(?) p.(Trp1150Arg)
./. - c.3473A>C r.(?) p.(Asn1158Thr)
./. - c.3476T>C r.(?) p.(Ile1159Thr)
./. - c.3594+118G>T r.(=) p.(=)
./. - c.3595-90T>C r.(=) p.(=)
./. - c.3595-77G>T r.(=) p.(=)
./. - c.3595-58_3595-57insT r.(=) p.(=)
./. - c.3595-57A>T r.(=) p.(=)
./. - c.3595-57_3595-56insT r.(=) p.(=)
./. - c.3595-55del r.(=) p.(=)
./. - c.3734A>G r.(?) p.(Asn1245Ser)
./. - c.3768+50T>C r.(=) p.(=)
./. - c.3769-70C>T r.(=) p.(=)
./. - c.3769-8T>C r.(=) p.(=)
./. - c.3769-4A>G r.spl? p.?
./. - c.3799C>G r.(?) p.(Leu1267Val)
./. - c.3891+93G>A r.(=) p.(=)
./. - c.3892-86A>G r.(=) p.(=)
./. - c.3892-77T>C r.(=) p.(=)
./. - c.3942A>G r.(=) p.(=)
./. - c.4173+28G>A r.(=) p.(=)
./. - c.4173+58_4173+59del r.(=) p.(=)
./. - c.4173+77A>C r.(=) p.(=)
./. - c.4174-121T>C r.(=) p.(=)
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